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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FZD4, PRSS23
(D428fs)
Microsatellite
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
FZD4, PRSS23
(M105V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GPathogenic
NDP, NDP-AS1
Single nucleotide variant
(5 prime UTR variant)
Exudative retinopathy
+1 more
GUncertain significance
RCBTB1
(N236fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
RCBTB1
Single nucleotide variant
(splice donor variant)
Exudative retinopathy
+1 more
GLikely pathogenic
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